Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32073 | 96442;96443;96444 | chr2:178543927;178543926;178543925 | chr2:179408654;179408653;179408652 |
| N2AB | 30432 | 91519;91520;91521 | chr2:178543927;178543926;178543925 | chr2:179408654;179408653;179408652 |
| N2A | 29505 | 88738;88739;88740 | chr2:178543927;178543926;178543925 | chr2:179408654;179408653;179408652 |
| N2B | 23008 | 69247;69248;69249 | chr2:178543927;178543926;178543925 | chr2:179408654;179408653;179408652 |
| Novex-1 | 23133 | 69622;69623;69624 | chr2:178543927;178543926;178543925 | chr2:179408654;179408653;179408652 |
| Novex-2 | 23200 | 69823;69824;69825 | chr2:178543927;178543926;178543925 | chr2:179408654;179408653;179408652 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs1481940319  |
None | 0.02 | N | 0.233 | 0.074 | 0.17258766438 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/E | rs1481940319 |
None | 0.02 | N | 0.233 | 0.074 | 0.17258766438 | gnomAD-4.0.0 | 1.5914E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.77285E-05 | None | 0 | 0 | 0 | 0 | 0 |
| D/G | rs1312027934 |
-0.899 | 0.969 | N | 0.515 | 0.504 | 0.362160248664 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.64E-05 | 0 | 0 |
| D/G | rs1312027934 |
-0.899 | 0.969 | N | 0.515 | 0.504 | 0.362160248664 | gnomAD-4.0.0 | 1.59138E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 1.88239E-05 | 0 | 0 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.4687 | ambiguous | 0.4384 | ambiguous | -0.592 | Destabilizing | 0.939 | D | 0.517 | neutral | N | 0.505102152 | None | None | I |
| D/C | 0.9016 | likely_pathogenic | 0.8798 | pathogenic | -0.065 | Destabilizing | 0.999 | D | 0.667 | neutral | None | None | None | None | I |
| D/E | 0.1735 | likely_benign | 0.1688 | benign | -0.422 | Destabilizing | 0.02 | N | 0.233 | neutral | N | 0.418656603 | None | None | I |
| D/F | 0.9296 | likely_pathogenic | 0.9109 | pathogenic | -0.427 | Destabilizing | 0.998 | D | 0.666 | neutral | None | None | None | None | I |
| D/G | 0.3371 | likely_benign | 0.3047 | benign | -0.842 | Destabilizing | 0.969 | D | 0.515 | neutral | N | 0.484010943 | None | None | I |
| D/H | 0.613 | likely_pathogenic | 0.5695 | pathogenic | -0.523 | Destabilizing | 0.998 | D | 0.547 | neutral | D | 0.526613574 | None | None | I |
| D/I | 0.8615 | likely_pathogenic | 0.8353 | pathogenic | 0.04 | Stabilizing | 0.993 | D | 0.681 | prob.neutral | None | None | None | None | I |
| D/K | 0.7149 | likely_pathogenic | 0.6867 | pathogenic | 0.117 | Stabilizing | 0.91 | D | 0.485 | neutral | None | None | None | None | I |
| D/L | 0.7902 | likely_pathogenic | 0.7542 | pathogenic | 0.04 | Stabilizing | 0.986 | D | 0.663 | neutral | None | None | None | None | I |
| D/M | 0.9089 | likely_pathogenic | 0.8911 | pathogenic | 0.39 | Stabilizing | 0.999 | D | 0.66 | neutral | None | None | None | None | I |
| D/N | 0.2045 | likely_benign | 0.1948 | benign | -0.271 | Destabilizing | 0.939 | D | 0.483 | neutral | N | 0.479590419 | None | None | I |
| D/P | 0.6761 | likely_pathogenic | 0.6639 | pathogenic | -0.148 | Destabilizing | 0.993 | D | 0.555 | neutral | None | None | None | None | I |
| D/Q | 0.5767 | likely_pathogenic | 0.5424 | ambiguous | -0.226 | Destabilizing | 0.973 | D | 0.462 | neutral | None | None | None | None | I |
| D/R | 0.7522 | likely_pathogenic | 0.7167 | pathogenic | 0.222 | Stabilizing | 0.986 | D | 0.613 | neutral | None | None | None | None | I |
| D/S | 0.2736 | likely_benign | 0.2524 | benign | -0.428 | Destabilizing | 0.953 | D | 0.446 | neutral | None | None | None | None | I |
| D/T | 0.5593 | ambiguous | 0.5411 | ambiguous | -0.223 | Destabilizing | 0.986 | D | 0.503 | neutral | None | None | None | None | I |
| D/V | 0.6849 | likely_pathogenic | 0.6417 | pathogenic | -0.148 | Destabilizing | 0.991 | D | 0.656 | neutral | N | 0.511972196 | None | None | I |
| D/W | 0.974 | likely_pathogenic | 0.9651 | pathogenic | -0.223 | Destabilizing | 0.999 | D | 0.653 | neutral | None | None | None | None | I |
| D/Y | 0.6259 | likely_pathogenic | 0.5703 | pathogenic | -0.172 | Destabilizing | 0.997 | D | 0.665 | neutral | D | 0.523381268 | None | None | I |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.